The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis

J. Smolders*, E. Peelen, M. Thewissen, P. Menheere, J.W. Tervaert, R. Hupperts, J.G.M.C. Damoiseaux

*Corresponding author for this work

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A poor vitamin D status has been associated with several autoimmune diseases, including multiple sclerosis (MS). The receptor for the biologically active metabolite of vitamin D appears to be a key player in these associations, not only as a mediator of the biological effects of vitamin D, but also as a mediator of the regulation of vitamin D metabolism itself. In this concise review, we will discuss the mostly investigated genetic polymorphisms of the vitamin D receptor (VDR), and their consequences for VDR functionality and immune regulation. Next, we will discuss the association of these polymorphisms with MS, and their relation with vitamin D metabolism. We conclude that polymorphisms of the VDR have major effects on vitamin D function and metabolism, and should therefore be assessed in studies on vitamin D and MS.
Original languageEnglish
Pages (from-to)621-6
JournalAutoimmunity Reviews
Issue number7
Publication statusPublished - 1 Jan 2009

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